| - GRCh37:
- Chr1:149825831-180236332
- GRCh38:
- Chr1:149854269-180267197
| LOC132088675, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090667, LOC132090668, LOC132090669, LOC729867, LORICRIN, LRRC52, LRRC52-AS1, LRRC71, LY9, LYSMD1, MAEL, MCL1, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MGST3, MINDY1, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR190B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4257, MIR4258, MIR4259, MIR4424, MIR4654, MIR488, MIR5187, MIR554, MIR555, MIR556, MIR557, MIR5698, MIR6737, MIR6738, MIR6878, MIR765, MIR8083, MIR9-1, MIR9-1HG, MIR921, MIR92B, MLLT11, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPL24, MRPL9, MRPS14, MRPS21, MSTO1, MTMR11, MTX1, MUC1, MYOC, MYOCOS, NAXE, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NES, NHLH1, NIT1, NME7, NOS1AP, NPHS2, NPR1, NR1I3, NTMT2, NTRK1, NUF2, NUP210L, OAZ3, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PAPPA2, PAQR6, PBX1, PBX1-AS1, PBXIP1, PCP4L1, PEA15, PEAR1, PEX19, PFDN2, PGLYRP3, PGLYRP4, PI4KB, PIGC, PIGM, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POU2F1, POU2F1-DT, PPOX, PRCC, PRDX6, PRDX6-AS1, PRPF3, PRR9, PRRC2C, PRRX1, PRUNE1, PSMB4, PSMD4, PYDC5, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RFX5, RFX5-AS1, RGS4, RGS5, RGS5-AS1, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, RXRG, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCARNA26A, SCARNA26B, SCARNA3, SCARNA4, SCNM1, SCYL3, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHE, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SLC9C2, SMCP, SMG5, SMIM42, SNAPIN, SNHG28, SNORA103, SNORA58B, SNORA80E, SNORD13C, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SNX27, SOAT1, SPATA46, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRR5, SPTA1, SSR2, STYXL2, SUCO, SV2A, SYT11, TADA1, TAGLN2, TARS2, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TDRKH-AS1, TEX35, TEX50, THBS3, THBS3-AS1, THEM4, THEM5, TIPRL, TMCO1, TMCO1-AS1, TMEM79, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TPM3, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRIM46, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TRX-CAT1-1, TSACC, TSTD1, TTC24, TUFT1, UAP1, UBAP2L, UBE2Q1, UBE2Q1-AS1, UBQLN4, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VHLL, VPS45, VPS72, VSIG8, XCL1, XCL2, YY1AP1, ZBTB37, ZBTB7B, ZNF687, ZNF687-AS1, LOC129931498, LOC129931499, LOC129931500, LOC129931501, LOC129931502, LOC129931503, LOC129931504, LOC129931505, LOC129931506, LOC129931507, LOC129931508, LOC129931509, LOC129931510, LOC129931511, LOC129931512, LOC129931513, LOC129931514, LOC129931515, LOC129931516, LOC129931517, LOC129931518, LOC129931519, LOC129931520, LOC129931521, LOC129931522, LOC129931523, LOC129931524, LOC129931525, LOC129931526, LOC129931527, LOC129931528, LOC129931529, LOC129931530, LOC129931531, LOC129931532, LOC129931533, LOC129931534, LOC129931535, LOC129931536, LOC129931537, LOC129931538, LOC129931539, LOC129931540, LOC129931541, LOC129931542, LOC129931543, LOC129931544, LOC129931545, LOC129931546, LOC129931547, LOC129931548, LOC129931549, LOC129931550, LOC129931551, LOC129931552, LOC129931553, LOC129931554, LOC129931555, LOC129931556, LOC129931557, LOC129931558, LOC129931559, LOC129931560, 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LOC129931703, LOC129931704, LOC129931705, LOC129931706, LOC129931707, LOC129931708, LOC129931709, LOC129931710, LOC129931711, LOC129931712, LOC129931713, LOC129931714, LOC129931715, LOC129931716, LOC129931717, LOC129931718, LOC129931719, LOC129931720, LOC129931721, LOC129931722, LOC129931723, LOC129931724, LOC129931725, LOC129931726, LOC129931727, LOC129931728, LOC129931729, LOC129931730, LOC129931731, LOC129931732, LOC129931733, LOC129931734, LOC129931735, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LOC129931765, LOC129931766, LOC129931767, LOC129931768, LOC129931769, LOC129931770, LOC129931771, LOC129931772, LOC129931773, 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LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC132088596, LOC132088597, LOC132088598, LOC132088599, LOC132088600, LOC132088655, LOC132088672, HRNR, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, IL6R, IL6R-AS1, ILDR2, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITLN1, ITLN2, IVL, JTB, JTB-DT, KCNJ10, KCNJ9, KCNN3, KHDC4, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCE7A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINC02988, LINGO4, LMNA, 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LOC129388609, LOC129388610, LOC129388611, LOC129388612, LOC129388613, LOC129388614, LOC129388615, LOC129388616, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129388647, LOC129931373, LOC129931374, LOC129931375, LOC129931376, LOC129931377, LOC129931378, LOC129931379, LOC129931380, LOC129931381, LOC129931382, LOC129931383, LOC129931384, LOC129931385, LOC129931386, LOC129931387, LOC129931388, LOC129931389, LOC129931390, LOC129931391, LOC129931392, LOC129931393, LOC129931394, LOC129931395, LOC129931396, LOC129931397, LOC129931398, LOC129931399, LOC129931400, LOC129931401, LOC129931402, LOC129931403, LOC129931404, LOC129931405, LOC129931406, LOC129931407, LOC129931408, LOC129931409, LOC129931410, LOC129931411, LOC129931412, LOC129931413, LOC129931414, LOC129931415, LOC129931416, LOC129931417, LOC129931418, LOC129931419, LOC129931420, LOC129931421, LOC129931422, LOC129931423, LOC129931424, LOC129931425, LOC129931426, LOC129931427, LOC129931428, LOC129931429, LOC129931430, LOC129931431, LOC129931432, LOC129931433, LOC129931434, LOC129931435, LOC129931436, LOC129931437, LOC129931438, LOC129931439, LOC129931440, LOC129931441, LOC129931442, LOC129931443, LOC129931444, LOC129931445, LOC129931446, LOC129931447, LOC129931448, LOC129931449, LOC129931450, LOC129931451, LOC129931452, LOC129931453, LOC129931454, LOC129931455, LOC129931456, LOC129931457, LOC129931458, LOC129931459, LOC129931460, LOC129931461, LOC129931462, LOC129931463, LOC129931464, LOC129931465, LOC129931466, LOC129931467, LOC129931468, LOC129931469, LOC129931470, LOC129931471, LOC129931472, LOC129931473, LOC129931474, LOC129931475, LOC129931476, LOC129931477, LOC129931478, LOC129931479, LOC129931480, LOC129931481, LOC129931482, LOC129931483, LOC129931484, LOC129931485, LOC129931486, LOC129931487, LOC129931488, LOC129931489, LOC129931490, LOC129931491, LOC129931492, LOC129931493, LOC129931494, LOC129931495, LOC129931496, LOC129931497, ABL2, ACKR1, ADAM15, ADAM15-EFNA4, ADAMTS4, ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ADAR, ADCY10, AIM2, ALDH9A1, ANGPTL1, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, AQP10, ARHGAP30, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ARNT, ASH1L, ASH1L-AS1, ASTN1, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, ATP8B2, AXDND1, B4GALT3, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, C2CD4D, C2CD4D-AS1, CA14, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CCT3, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CDC42SE1, CELF3, CENPL, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLEC20A, CLK2, COP1, COP1-DT, COPA, CRABP2, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CRYZL2P-SEC16B, CTSK, CTSS, CTXND2, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST1-AS1, DCST2, DDR2, DEDD, DENND4B, DNM3, DNM3-IT1, DNM3OS, DPM3, DPT, DUSP12, DUSP23, ECM1, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENSA, ENTREP3, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FIRRM, FLAD1, FLG, FLG-AS1, FLG2, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GORAB, GORAB-AS1, GPA33, GPATCH4, GPR161, GPR52, H2AC20, H2AC21, H2BC21, H4C15, HAPLN2, HAX1, HCN3, HDGF, HORMAD1 | | See cases | Pathogenic (Jul 16, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:157717036-175990383
- GRCh38:
- Chr1:157747246-176021247
| ADAMTS4, ADCY10, AIM2, ALDH9A1, ANKRD45, APCS, APOA2, ARHGAP30, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, B4GALT3, BLZF1, C1orf105, C1orf226, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CENPL, CFAP126, CFAP45, COP1, COPA, CREG1, CRP, DARS2, DCAF6, DCAF8, DCAF8-DT, DDR2, DEDD, DNM3, DNM3-IT1, DNM3OS, DPT, DUSP12, DUSP23, F11R, F5, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL6, FCRLA, FCRLB, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, ILDR2, ITLN1, ITLN2, KCNJ10, KCNJ9, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01657, LINC01675, LINC01681, LINC01704, LINC02819, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC105371468, LOC105371470, LOC105371622, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112543491, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC125312414, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC127814295, LOC129388614, LOC129388615, LOC129388616, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129931661, LOC129931662, LOC129931663, LOC129931664, LOC129931665, LOC129931666, LOC129931667, LOC129931668, LOC129931669, LOC129931670, LOC129931671, LOC129931672, LOC129931673, LOC129931674, LOC129931675, LOC129931676, LOC129931677, LOC129931678, LOC129931679, LOC129931680, LOC129931681, LOC129931682, LOC129931683, LOC129931684, LOC129931685, LOC129931686, LOC129931687, LOC129931688, LOC129931689, LOC129931690, LOC129931691, LOC129931692, LOC129931693, LOC129931694, LOC129931695, LOC129931696, LOC129931697, LOC129931698, LOC129931699, LOC129931700, LOC129931701, LOC129931702, LOC129931703, LOC129931704, LOC129931705, LOC129931706, LOC129931707, LOC129931708, LOC129931709, LOC129931710, LOC129931711, LOC129931712, LOC129931713, LOC129931714, LOC129931715, LOC129931716, LOC129931717, LOC129931718, LOC129931719, LOC129931720, LOC129931721, LOC129931722, LOC129931723, LOC129931724, LOC129931725, LOC129931726, LOC129931727, LOC129931728, LOC129931729, LOC129931730, LOC129931731, LOC129931732, LOC129931733, LOC129931734, LOC129931735, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LOC129931765, LOC129931766, LOC129931767, LOC129931768, LOC129931769, LOC129931770, LOC129931771, LOC129931772, LOC129931773, LOC129931774, LOC129931775, LOC129931776, LOC129931777, LOC129931778, LOC129931779, LOC129931780, LOC129931781, LOC129931782, LOC129931783, LOC129931784, LOC129931785, LOC129931786, LOC129931787, LOC129931788, LOC129931789, LOC129931790, LOC129931791, LOC129931792, LOC129931793, LOC129931794, LOC129931795, LOC129931796, LOC129931797, LOC129931798, LOC129931799, LOC129931800, LOC129931801, LOC129931802, LOC129931803, LOC129931804, LOC129931805, LOC129931806, LOC129931807, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, ACKR1, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC132088596, LOC132088597, LOC132088598, LOC132088655, LOC132088672, LOC132088675, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090667, LOC132090668, LOC132090669, LOC729867, LRRC52, LRRC52-AS1, LY9, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4259, MIR4654, MIR5187, MIR556, MIR557, MIR921, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NHLH1, NIT1, NME7, NOS1AP, NR1I3, NTMT2, NUF2, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, PBX1, PBX1-AS1, PCP4L1, PEA15, PEX19, PFDN2, PIGC, PIGM, POGK, POU2F1, POU2F1-DT, PPOX, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, PYDC5, PYHIN1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, RGS4, RGS5, RGS5-AS1, RXRG, SCARNA3, SCYL3, SDHC, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC9C2, SMIM42, SNHG28, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SPATA46, SPTA1, STYXL2, SUCO, TADA1, TAGLN2, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VSIG8, XCL1, XCL2, ZBTB37 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161710697-173934292
- GRCh38:
- Chr1:161740907-173965154
| ADCY10, ALDH9A1, ANKRD45, ATF6, ATF6-DT, ATP1B1, BLZF1, C1orf105, C1orf226, CCDC181, CCDC190, CD247, CENPL, CREG1, DARS2, DCAF6, DDR2, DNM3, DNM3-IT1, DNM3OS, DPT, DUSP12, F5, FAM78B, FAM78B-AS1, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, HSD17B7, ILDR2, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01675, LINC01681, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725062, LOC121725063, LOC121725064, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC125312414, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC127814295, LOC129388616, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129931787, LOC129931788, LOC129931789, LOC129931790, LOC129931791, LOC129931792, LOC129931793, LOC129931794, LOC129931795, LOC129931796, LOC129931797, LOC129931798, LOC129931799, LOC129931800, LOC129931801, LOC129931802, LOC129931803, LOC129931804, LOC129931805, LOC129931806, LOC129931807, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC132088596, LOC132088597, LOC132088598, LOC132088655, LOC132088672, LOC132088675, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090668, LOC132090669, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4654, MIR556, MIR557, MIR921, MPC2, MPZL1, MROH9, MYOC, MYOCOS, NME7, NOS1AP, NTMT2, NUF2, OLFML2B, PBX1, PBX1-AS1, PIGC, POGK, POU2F1, POU2F1-DT, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RC3H1, RCSD1, RGS4, RGS5, RGS5-AS1, RXRG, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SPATA46, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TRP-AGG2-1, TRP-CGG1-1, UAP1, UCK2, UHMK1, VAMP4, XCL1, XCL2, ZBTB37 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:163352313-175846158
- GRCh38:
- Chr1:163382523-175877022
| ADCY10, ALDH9A1, ANKRD45, ATP1B1, BLZF1, C1orf105, CACYBP, CCDC181, CD247, CENPL, CREG1, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FAM78B, FAM78B-AS1, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01675, LINC01681, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC105371622, LOC108251792, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC125312414, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129931807, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC132088596, LOC132088597, LOC132088598, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090669, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR557, MIR921, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PBX1, PBX1-AS1, PIGC, POGK, POU2F1, POU2F1-DT, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, RXRG, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TRP-AGG2-1, TRP-CGG1-1, UCK2, VAMP4, XCL1, XCL2, ZBTB37 | | See cases | Pathogenic (Mar 19, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:164891892-180030724
- GRCh38:
- Chr1:164922655-180061589
| FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01645, LINC01657, LINC01675, LINC01681, LINC01741, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC105371622, LOC110121063, LOC110121105, LOC111464988, LOC111556138, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC125312414, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC128071543, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129931808, LOC129931809, LOC129931810, LOC129931811, LOC129931812, LOC129931813, LOC129931814, LOC129931815, LOC129931816, LOC129931817, LOC129931818, LOC129931819, LOC129931820, LOC129931821, LOC129931822, LOC129931823, LOC129931824, LOC129931825, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC129931972, LOC129931973, LOC129931974, LOC129931975, LOC129931976, LOC129931977, LOC129931978, LOC129931979, LOC129931980, LOC129931981, LOC129931982, LOC129931983, LOC129931984, LOC129931985, LOC129931986, LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC132088596, LOC132088597, LOC132088598, LOC132088744, LOC132088748, LOC132088749, LOC132090669, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4424, MIR488, MIR557, MIR921, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NPHS2, NTMT2, PAPPA2, PIGC, POGK, POU2F1, POU2F1-DT, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RXRG, SCARNA3, SCYL3, SEC16B, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SOAT1, STYXL2, SUCO, TADA1, TBX19, TDRD5, TEX35, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TOR1AIP1, TOR1AIP2, TOR3A, TRP-AGG2-1, TRP-CGG1-1, UCK2, VAMP4, XCL1, XCL2, ZBTB37, ABL2, ADCY10, ALDH9A1, ANGPTL1, ANKRD45, ASTN1, ATP1B1, AXDND1, BLZF1, BRINP2, C1orf105, C1orf220, CACYBP, CCDC181, CD247, CENPL, CEP350, CLEC20A, COP1, COP1-DT, CREG1, CRYZL2P-SEC16B, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:166732069-175296559
- GRCh38:
- Chr1:166762832-175327423
| ADCY10, ANKRD45, ATP1B1, BLZF1, C1orf105, CACYBP, CCDC181, CD247, CENPL, CREG1, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01681, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC105371622, LOC110121063, LOC110121105, LOC111464988, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC125312414, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129931826, LOC129931827, LOC129931828, LOC129931829, LOC129931830, LOC129931831, LOC129931832, LOC129931833, LOC129931834, LOC129931835, LOC129931836, LOC129931837, LOC129931838, LOC129931839, LOC129931840, LOC129931841, LOC129931842, LOC129931843, LOC129931844, LOC129931845, LOC129931846, LOC129931847, LOC129931848, LOC129931849, LOC129931850, LOC129931851, LOC129931852, LOC129931853, LOC129931854, LOC129931855, LOC129931856, LOC129931857, LOC129931858, LOC129931859, LOC129931860, LOC129931861, LOC129931862, LOC129931863, LOC129931864, LOC129931865, LOC129931866, LOC129931867, LOC129931868, LOC129931869, LOC129931870, LOC129931871, LOC129931872, LOC129931873, LOC129931874, LOC129931875, LOC129931876, LOC129931877, LOC129931878, LOC129931879, LOC129931880, LOC129931881, LOC129931882, LOC129931883, LOC129931884, LOC129931885, LOC129931886, LOC129931887, LOC129931888, LOC129931889, LOC129931890, LOC129931891, LOC129931892, LOC129931893, LOC129931894, LOC129931895, LOC129931896, LOC129931897, LOC129931898, LOC129931899, LOC129931900, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC132088597, LOC132088598, MAEL, METTL13, METTL18, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR557, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PIGC, POGK, POU2F1, POU2F1-DT, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TNFSF18, TNFSF4, TNN, TNR, TRP-AGG2-1, TRP-CGG1-1, VAMP4, XCL1, XCL2, ZBTB37 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054800
- GRCh38:
- Chr1:168085562
| GPR161 | E388G, E406G, E442G, E520G, E537G, E540G | Predisposition to medulloblastoma | Uncertain significance (Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054857
- GRCh38:
- Chr1:168085619
| GPR161 | G369fs, G387fs, G423fs, G501fs, G518fs, G521fs | Medulloblastoma | Uncertain significance (May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054868
- GRCh38:
- Chr1:168085630
| GPR161 | | not provided | Likely benign (Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054890
- GRCh38:
- Chr1:168085652
| GPR161 | T510I, T358I, T490I, T376I, T412I, T507I | Inborn genetic diseases | Uncertain significance (May 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054914
- GRCh38:
- Chr1:168085676
| GPR161 | E350A, E368A, E404A, E482A, E499A, E502A | Medulloblastoma | Uncertain significance (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054946
- GRCh38:
- Chr1:168085708
| GPR161 | | not provided | Benign (Apr 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054949
- GRCh38:
- Chr1:168085711
| GPR161 | | not provided | Likely benign (Apr 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054950
- GRCh38:
- Chr1:168085712
| GPR161 | I338T, I392T, I487T, I490T, I470T, I356T | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168054963
- GRCh38:
- Chr1:168085725
| GPR161 | | not provided | Benign (Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168056882
- GRCh38:
- Chr1:168087644
| GPR161 | T439I, T290I, T344I, T442I, T308I, T422I | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168056912
- GRCh38:
- Chr1:168087674
| GPR161 | T280M, T298M, T334M, T412M, T429M, T432M | Medulloblastoma | Uncertain significance (Aug 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168056916
- GRCh38:
- Chr1:168087678
| GPR161 | Y279H, Y297H, Y333H, Y411H, Y428H, Y431H | Inborn genetic diseases, Medulloblastoma | Uncertain significance (Jul 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:168056935
- GRCh38:
- Chr1:168087697
| GPR161 | D272E, D424E, D290E, D326E, D404E, D421E | Inborn genetic diseases | Uncertain significance (Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168059810
- GRCh38:
- Chr1:168090572
| GPR161 | Q267R, Q285R, Q321R, Q399R, Q416R, Q419R | Medulloblastoma | Uncertain significance (May 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168065768
- GRCh38:
- Chr1:168096530
| GPR161 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168065797
- GRCh38:
- Chr1:168096559
| GPR161 | V272L, V367L, V218L, V370L, V350L, V236L | Inborn genetic diseases | Uncertain significance (Mar 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168065898
- GRCh38:
- Chr1:168096660
| GPR161 | S202I, S336I, S184I, S238I, S316I, S333I | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168065960
- GRCh38:
- Chr1:168096722
| GPR161 | | not provided | Likely benign (Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066007
- GRCh38:
- Chr1:168096769
| GPR161 | M202L, M297L, M280L, M166L, M300L, M148L | Inborn genetic diseases | Uncertain significance (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066017
- GRCh38:
- Chr1:168096779
| GPR161 | | not provided | Benign (Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066081
- GRCh38:
- Chr1:168096843
| GPR161 | A177V, A123V, A255V, A272V, A141V, A275V | Inborn genetic diseases | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066087
- GRCh38:
- Chr1:168096849
| GPR161 | R175K, R273K, R139K, R253K, R121K, R270K | Inborn genetic diseases | Uncertain significance (Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066132
- GRCh38:
- Chr1:168096894
| GPR161 | G106A, G124A, G160A, G238A, G255A, G258A | Medulloblastoma | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066133
- GRCh38:
- Chr1:168096895
| GPR161 | G106R, G124R, G160R, G238R, G255R, G258R | not provided | Uncertain significance (Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066150
- GRCh38:
- Chr1:168096912
| GPR161 | E100G, E118G, E154G, E232G, E249G, E252G | not provided | Uncertain significance (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066163
- GRCh38:
- Chr1:168096925
| GPR161 | V114F, V150F, V228F, V245F, V248F, V96F | Medulloblastoma | Uncertain significance (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066185
- GRCh38:
- Chr1:168096947
| GPR161 | | not provided | Likely benign (Oct 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066207
- GRCh38:
- Chr1:168096969
| GPR161 | R230H, R233H, R213H, R135H, R81H, R99H | Inborn genetic diseases | Uncertain significance (May 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066251
- GRCh38:
- Chr1:168097013
| GPR161 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066340
- GRCh38:
- Chr1:168097102
| GPR161 | V169M, V186M, V189M, V37M, V55M, V91M | Medulloblastoma | Uncertain significance (Sep 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066357-168066358
- GRCh38:
- Chr1:168097119-168097120
| GPR161 | L163fs, L180fs, L183fs, L31fs, L49fs, L85fs | Medulloblastoma | Pathogenic (Oct 17, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:168066359
- GRCh38:
- Chr1:168097121
| GPR161 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168066461
- GRCh38:
- Chr1:168097223
| GPR161 | | not provided | Benign (Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168073821
- GRCh38:
- Chr1:168104583
| GPR161 | R90C, R107C, R110C | Inborn genetic diseases | Uncertain significance (Jul 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168073832
- GRCh38:
- Chr1:168104594
| GPR161 | T106M, T86M, T103M | Inborn genetic diseases | Uncertain significance (Jul 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168073846
- GRCh38:
- Chr1:168104608
| GPR161 | | not provided | Benign (Apr 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168073850
- GRCh38:
- Chr1:168104612
| GPR161 | V80A, V100A, V97A | Inborn genetic diseases | Uncertain significance (May 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168073893
- GRCh38:
- Chr1:168104655
| GPR161 | V83I, V66I, V86I | Inborn genetic diseases | Uncertain significance (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168074014
- GRCh38:
- Chr1:168104776
| GPR161 | | not provided | Benign (Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168074023
- GRCh38:
- Chr1:168104785
| GPR161 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168074093
- GRCh38:
- Chr1:168104855
| GPR161 | L19Q, L16Q | Pituitary stalk interruption syndrome | Likely pathogenic (Jan 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168074130
- GRCh38:
- Chr1:168104892
| GPR161 | V7I, V4I | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:168105496
- GRCh38:
- Chr1:168136258
| GPR161 | S47C | not provided, not specified | Benign/Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr1:168105581-168105582
- GRCh38:
- Chr1:168136343-168136344
| GPR161 | G19fs | not specified | Benign (Nov 8, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:167400918-168282240
| ADCY10, CD247, CREG1, DCAF6, GPR161, MPC2, MPZL1, RCSD1, SFT2D2, TBX19, TIPRL | | Immunodeficiency 25 | Uncertain significance (Mar 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:167391422-171843613
| ADCY10, ATP1B1, BLZF1, C1orf112, CCDC181, CD247, CREG1, DCAF6, DNM3, DPT, F5, FMO1, FMO2, FMO3, FMO4, GORAB, GPR161, KIFAP3, METTL13, METTL18, MPC2, MPZL1, MROH9, MYOC, NME7, NTMT2, POU2F1, PRRC2C, PRRX1, RCSD1, SCYL3, SELE, SELL, SELP, SFT2D2, SLC19A2, TBX19, TIPRL, VAMP4, XCL1, XCL2 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:162330810-171532331
| ADCY10, ALDH9A1, ATP1B1, BLZF1, C1orf112, C1orf226, CCDC181, CCDC190, CD247, CREG1, DCAF6, DDR2, DPT, F5, FAM78B, FMO1, FMO2, FMO3, FMO4, GORAB, GPA33, GPR161, HSD17B7, ILDR2, KIFAP3, LMX1A, LRRC52, MAEL, METTL18, MGST3, MPC2, MPZL1, MROH9, NME7, NOS1AP, NTMT2, NUF2, PBX1, POGK, POU2F1, PRRC2C, PRRX1, RCSD1, RGS4, RGS5, RXRG, SCYL3, SELE, SELL, SELP, SFT2D2, SH2D1B, SLC19A2, SPATA46, STYXL2, TADA1, TBX19, TIPRL, TMCO1, UAP1, UCK2, UHMK1, XCL1, XCL2 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:167741130-168188082
| ADCY10, DCAF6, GPR161, MPC2, MPZL1, TIPRL | | not provided | Uncertain significance (May 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:130980840-248900000
| BGLAP, BLZF1, CFAP126, DUSP12, DUSP23, FMO1, IGFN1, IGSF8, LCE5A, MRPS21, MSTO1, MT1HL1, MTARC1, OR10R2, OR10T2, PEAR1, PTPN7, S100A11, S100A12, S100A13, S100A14, SNRPE, TMEM63A, TMEM79, ZBTB37, ZBTB41, ZP4, ZNF124, ZNF687, ZNF695, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, SNX27, SOAT1, SOX13, SPRR1B, SPRR2D, SPRR2A, SPRR2B, ZBTB7B, ZC3H11A, SPATA17, SPATA45, SPATA46, SPHAR, S100A5, SCNM1, SCYL3, S100A16, S100A2, S100A3, S100A4, S100A6, S100A7, S100A7A, S100A8, S100A9, SPMIP3, SPRR1A, RABGAP1L, RABIF, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3GAP2, RAB4A, SCAMP3, SCCPDH, PI4KB, PIGC, PIAS3, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PTPRC, OR2AK2, OR2B11, OR14A16, OR14C36, OR1C1, OR2C3, PEX11B, PEX19, PFDN2, OR11L1, OR13G1, OR14I1, OR10X1, OR10Z1, MTR, MTX1, MUC1, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, MTARC2, MTMR11, MYBPH, MYOC, MYOG, LPGAT1, LRRC52, LEFTY2, LELP1, LEMD1, LENEP, LGALS8, LCE6A, LEFTY1, LGR6, LIX1L, IL24, IL6R, ILDR2, IL20, ILF2, INAVA, INSRR, INTS3, INTS7, IGSF9, IKBKE, IKBKE-AS1, IPO9, IQGAP3, IRF2BP2, IL10, IL19, GNPAT, GOLPH3L, GOLT1A, GALNT2, GABPB2, GAS5, GON4L, GARIN4, ELF3, ELK4, ENAH, ENSA, ENTREP3, EDEM3, EFCAB2, DYRK3, ECM1, EDARADD, EPHX1, EPRS1, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, CHTOP, CFHR2, CFHR3, CFAP141, CFAP45, CFHR4, CIART, CKS1B, CLK2, CFH, CFHR1, CFHR5, CGN, CHRNB2, C1orf116, C1orf131, C1orf198, BNIPL, BOLA1, C1orf43, C1orf21, C1orf226, C1orf35, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf105, C1orf115, ABCB10, ACTN2, ADAM15, ACP6, ACTA1, ABL2, ACBD3, ACBD6, ACKR1, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN8, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, GLUL, GNG4, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LMNA, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LRRC71, LRRN2, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, NBPF8, NBPF9, NCF2, NCSTN, NDUFS2, NECTIN4, NEK2, NEK7, NENF, NES, NFASC, NHLH1, NIBAN1, NID1, NIT1, NLRP3, NME7, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PACC1, PAPPA2, PAQR6, PARP1, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PDE4DIP, PDZK1, PEA15, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, RALGPS2, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RUSC1-AS1, RXFP4, RXRG, RYR2, S100A1, S100A10, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SERTAD4, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18 | | Paragangliomas 3, Gastrointestinal stroma tumor, Parathyroid carcinoma
| Uncertain significance (Feb 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164608682-169216098
| STYXL2, GPR161, LMX1A, MPZL1, RXRG, PBX1, TBX19, TIPRL, POGK, CREG1, UCK2, GPA33, XCL1, MGST3, POU2F1, TADA1, DPT, MAEL, DCAF6, XCL2, ADCY10, NME7, SFT2D2, MPC2, ILDR2, CD247, ATP1B1, TMCO1, FAM78B, RCSD1, LRRC52, ALDH9A1 | | not provided | Likely pathogenic (Jan 24, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:167430471-174635618
| METTL13, METTL18, MIR199A2, MIR214, MIR3120, MPC2, MPZL1, PRRX1, RABGAP1L, RC3H1, RCSD1, SCYL3, SELE, MYOC, NME7, NTMT2, PIGC, PRDX6, PRRC2C, MROH9, ADCY10, ANKRD45, ATP1B1, BLZF1, C1orf105, CCDC181, CD247, CENPL, CREG1, DARS2, DCAF6, DNM3, DNM3OS, DPT, F5, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GORAB, GPR161, GPR52, KIFAP3, KLHL20, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SUCO, TBX19, TIPRL, TNFSF18, TNFSF4, VAMP4, XCL1, XCL2, ZBTB37 | | not provided | Pathogenic (Jun 3, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:163093021-168991239
| ADCY10, ALDH9A1, CD247, CREG1, DCAF6, DPT, FAM78B, GPA33, GPR161, ILDR2, LMX1A, LRRC52, MAEL, MGST3, MPC2, MPZL1, NUF2, PBX1, POGK, POU2F1, RCSD1, RGS5, RXRG, SFT2D2, STYXL2, TADA1, TBX19, TIPRL, TMCO1, UCK2, XCL1, XCL2 | | not provided | Pathogenic (Apr 13, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:160369890-175796325
| ADCY10, ALDH9A1, ADAMTS4, ANKRD45, APOA2, ARHGAP30, ATF6, ATP1B1, B4GALT3, BLZF1, C1orf105, C1orf226, CACYBP, CCDC181, CCDC190, CD244, CD247, CD48, CD84, CENPL, CFAP126, CREG1, DARS2, DCAF6, DDR2, DEDD, DNM3, DNM3OS, DPT, DUSP12, F11R, F5, FAM78B, FASLG, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GORAB, GPA33, GPR161, GPR52, HSD17B7, HSPA6, ILDR2, ITLN1, ITLN2, KIAA0040, KIFAP3, KLHDC9, KLHL20, LMX1A, LRRC52, LY9, MAEL, METTL13, METTL18, MGST3, MIR199A2, MIR214, MIR3120, MPC2, MPZ, MPZL1, MROH9, MRPS14, MYOC, NDUFS2, NECTIN4, NIT1, NME7, NOS1AP, NR1I3, NTMT2, NUF2, OLFML2B, PBX1, PCP4L1, PFDN2, PIGC, POGK, POU2F1, PPOX, PRDX6, PRRC2C, PRRX1, RABGAP1L, RC3H1, RCSD1, RGS4, RGS5, RXRG, SCYL3, SDHC, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLC19A2, SLC9C2, SPATA46, STYXL2, SUCO, TADA1, TBX19, TIPRL, TMCO1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, XCL1, XCL2, ZBTB37 | |